LOVD SH2D1A homepage

General information
Gene name XLP SH2 domain protein 1A
Gene symbol SH2D1A
Chromosome Location Xq25
Database location https://research.cchmc.org/LOVD2/
Curator Ammar Husami
PubMed references View all (unique) PubMed references in the SH2D1A database
Date of creation April 20, 2010
Last update April 29, 2010
Version SH2D1A100429
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Reference sequence file coding DNA reference sequence for describing sequence variants
Genomic refseq ID NG_007464.1
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 35
Total number of individuals with variant(s) 2
Total number of variants reported 36
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the SH2D1A database, sorted by type of variant (with graphical displays and statistics)
Reading-frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes

Sequence variant tables
Unique sequence variants Listing of all unique sequence variants in the SH2D1A database, without patient data
Complete sequence variant listing Listing of all sequence variants in the SH2D1A database
Variants with no known pathogenicity Listing of all SH2D1A variants reported to have no noticeable phenotypic effect (note: excluding variants of unknown effect)

Search the database
By type of variant View all sequence variants of a certain type
Simple search Query the database by selecting the most important variables (exon number, type of variant, disease phenotype)
Advanced search Query the database by selecting a combination of variables
Based on patient origin View all variants based on your patient origin search terms

Links to other resources
External link SH2D1Abase: Mutation registry for X-linked lymphoproliferative syndrome (XLP) Luigi D. Notarangelo, Mauno Vihinen, Univ. of Tampere, Tampere, Finland
HGNC 10820
Entrez Gene 4068
OMIM - Gene 300490
UniProtKB (SwissProt/TrEMBL) O60880
HGMD SH2D1A
GeneCards SH2D1A
GeneTests SH2D1A